ClinVar Miner

List of variants reported as benign for catecholaminergic polymorphic ventricular tachycardia 2 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.738-5del rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.784-17T>A rs2997741

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